Variant report

Variant	rs12794864
Chromosome Location	chr11:102215403-102215404
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:102215315-102219282	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102215215..102219130-chr11:102321135..102324493,6	K562	blood:

Variant related genes	Relation type
BIRC2	TF binding region
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11225310	1.00[ASN][1000 genomes]
rs11604260	1.00[ASN][1000 genomes]
rs12799274	1.00[ASN][1000 genomes]
rs1290044	0.87[AMR][1000 genomes]
rs13711	0.82[AFR][1000 genomes]
rs17098329	1.00[ASN][1000 genomes]
rs17769668	1.00[ASN][1000 genomes]
rs17881703	1.00[ASN][1000 genomes]
rs33945990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34422940	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34740624	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3758841	0.82[AFR][1000 genomes]
rs60724341	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895369	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs637708	0.90[AMR][1000 genomes]
rs7115301	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1839485	chr11:102207851-102220279	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102188800-102216600	Weak transcription	HSMMtube	muscle
2	chr11:102189400-102216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr11:102189400-102216800	Weak transcription	Right Ventricle	heart
4	chr11:102191200-102216800	Weak transcription	Aorta	Aorta
5	chr11:102191200-102217400	Weak transcription	Esophagus	oesophagus
6	chr11:102191600-102216600	Weak transcription	Brain Anterior Caudate	brain
7	chr11:102198400-102217400	Weak transcription	Gastric	stomach
8	chr11:102200000-102216600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:102201600-102216600	Weak transcription	Colonic Mucosa	Colon
10	chr11:102203200-102216000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:102203600-102216600	Weak transcription	Adipose Nuclei	Adipose
12	chr11:102203600-102216600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:102203600-102217400	Weak transcription	Spleen	Spleen
14	chr11:102204400-102216600	Weak transcription	Small Intestine	intestine
15	chr11:102204400-102216800	Weak transcription	Pancreas	Pancrea
16	chr11:102207200-102216600	Weak transcription	Left Ventricle	heart
17	chr11:102208600-102216600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:102209000-102216400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:102209000-102216400	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:102209200-102216600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:102209200-102216800	Weak transcription	Liver	Liver
22	chr11:102209400-102215600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:102209400-102217400	Weak transcription	Lung	lung
24	chr11:102209600-102216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:102209600-102216800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:102209800-102216600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:102209800-102216800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:102209800-102217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:102210400-102216400	Weak transcription	Primary T cells from cord blood	blood
30	chr11:102210400-102216600	Weak transcription	Primary B cells from cord blood	blood
31	chr11:102210400-102216600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:102210400-102216600	Weak transcription	Fetal Intestine Large	intestine
33	chr11:102210600-102216600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:102211800-102215800	Enhancers	K562	blood
35	chr11:102212600-102215600	Weak transcription	HepG2	liver
36	chr11:102212600-102216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:102212600-102216600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:102212800-102216400	Weak transcription	Hela-S3	cervix
39	chr11:102212800-102216600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:102212800-102216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:102212800-102216600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:102212800-102216600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:102212800-102216600	Weak transcription	Brain Angular Gyrus	brain
44	chr11:102213000-102215600	Weak transcription	NHEK	skin
45	chr11:102213000-102216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:102213000-102216400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:102213000-102216400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:102213000-102216400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:102213000-102216400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:102213000-102216600	Weak transcription	Primary B cells from peripheral blood	blood

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